Search results for "Ductus"
showing 10 items of 27 documents
Microdeletion 22q11 in complex cardiovascular malformations.
1997
Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA p…
Double inlet left ventricular main chamber, subaortic small left sided right ventricle and interrupted aortic arch type A. What operation is indicate…
1987
A case of a 23 year old female patient who suffered from the complex congenital heart lesion of a double inlet left ventricular main chamber, subaortic small left sided right ventricle and interrupted aortic arch type A is reported. With equally high blood pressures, the perfusion in the upper half of the body was maintained through the ascending aorta while the lower half and the lungs were supplied through the pulmonary artery and a patent ductus arteriosus (PDA). Angiographically, the bulbo-ventricular foramen appeared to be nonrestrictive. However, distinct signs of muscular subaortic stenosis were detected. The hemodynamic status principally allowed surgical correction when this became…
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
2006
We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection ( TAAD) and patent ductus arteriosus (PDA)(1,2) and mapped the disease locus to 16p12.2-p13.13 (ref. 3). We now demonstrate that the disease is caused by mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a specific contractile protein of smooth muscle cells (SMC). All individuals bearing the heterozygous mutations, even if asymptomatic, showed marked aortic stiffness. Examination of pathological aortas showed large areas of medial degeneration with very low SMC content. Abnormal immunological recognition of SM-MHC and the colocal…
Transient hepatic nodular lesions associated with patent ductus venosus in preterm infants.
2010
We report on two cases of low-birth-weight preterm infants with patent ductus venosus associated with hepatic hypoechoic lesions of the fourth segment in an otherwise normal liver. Although tumorlike hepatic lesions have been previously reported in association with portosystemic shunts in children and adults, they were never described in preterm infants during physiological patency of ductus venosus. In our patients, hepatic lesions disappeared shortly after the spontaneous ductus closure. Physiopathologic interactions are discussed regarding altered portal blood supply caused by ductus venosus shunt.
Cardiac output following fetoscopic coagulation of major placental vessels in fetal sheep.
2008
Objectives To measure changes in cardiac output (CO) after partial cord occlusion in fetal sheep in order to investigate pathophysiological fetal adaptation mechanisms in a simulated acute placental insufficiency model under standardized conditions, with the aim of finding relevant methods for monitoring human fetuses during stress situations. Methods We used minimally invasive, percutaneous endoscopic techniques to close umbilical vessels in mid-gestational fetal sheep. Placental blood flow was reduced by preferentially closing first arterial and then the concomitant venous umbilical vessels within a short time interval. The investigations were carried out on 11 pregnant ewes at a median g…
Ceramide Mediates Acute Oxygen Sensing in Vascular Tissues
2014
AbstractAims: A variety of vessels, such as resistance pulmonary arteries (PA) and fetoplacental arteries and the ductus arteriosus (DA) are specialized in sensing and responding to changes in oxygen tension. Despite opposite stimuli, normoxic DA contraction and hypoxic fetoplacental and PA vasoconstriction share some mechanistic features. Activation of neutral sphingomyelinase (nSMase) and subsequent ceramide production has been involved in hypoxic pulmonary vasoconstriction (HPV). Herein we aimed to study the possible role of nSMase-derived ceramide as a common factor in the acute oxygen-sensing function of specialized vascular tissues. Results: The nSMase inhibitor GW4869 and an anticera…
Prenatally detected double trisomy: Klinefelter and Down syndrome
2006
Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of u…
�ber die Struktur und den Verschlussmechanismus Des ductus venosus
1965
Das Gefasrohr des Ductus venosus schliest nur geringe Mengen der glatten Muskulatur ein. Ein muskularer Sphinkter ist an seinem Abgang nicht vorhanden. Auch andere vorgebildete Strukturen, z. B. die im Schrifttum gelegentlich erwahnten „Lippenbildungen“, die den Ductusabgang postnatal sofort verschliesen sollen, liegen nicht vor. Die postnatale funktionelle Ausschaltung des Ductus venosus ist Folge des Druckabfalles im portalen Sinus (Recessus umbilicalis) und beruht im Wesentlichen auf der Retraktion und Engstellung seines Abganges, dessen lichte Weite vom Gefasinnendruck in hohem Mase abhangig ist. Die Retraktion des Ductusabganges wird wahrscheinlich durch die muskularen Elemente geforde…
Footprint Curvature in Spanish Women: Implications for Footwear Fit
2020
The incorrect adjustment of footwear produces alterations in the foot that affect quality of life. The usual measurements for shoe design are lengths, widths and girths, but these measures are insufficient. The foot presents an angle between the forefoot and the rearfoot in the transverse plane, which is associated with foot pronation, hallux valgus and metatarsus adductus. Here, we aimed at identifying the groups formed by the angulations between the forefoot and rearfoot using a sample of footprints from 102 Spanish women. The angle between the forefoot and rearfoot was measured according to the method described by Bunch. A cluster analysis was performed using the K-means algorithm. Footp…
A New Off-Pump Hybrid Open and Endovascular Repair to Treat Ductus Botalli and Ascendens Aneurysms
2012
To report a combined ascending aorta and aortic arch hybrid repair, we performed off-pump with no aortic graft replacement. A 65-year-old man, developing progressive recurrent laryngeal nerve paralysis, underwent a computed tomography (CT) angiography detecting nonpatent residual ductus Botalli aneurysm and ascending aorta aneurysm. Due to severe multimorbidities, a less-invasive alternative was elaborated. In a first step, appropriate proximal landing zone for aortic stent grafting was achieved by ascending aorta diameter reduction, with epiaortic wrapping, and debranching the supra-aortic trunks. In the second step, endovascular stent grafts were deployed from proximal ascending aorta to…